HsaEX6066222 @ hg38
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen type II alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2200]
Coordinates
chr12:47976812-47977427:-
Coord C1 exon
chr12:47977320-47977427
Coord A exon
chr12:47977102-47977155
Coord C2 exon
chr12:47976812-47976919
Length
54 bp
Sequences
Splice sites
3' ss Seq
TGCGCTCACTCTCTCCTCAGGGT
3' ss Score
12.51
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GGTGATCGTGGTGAGACTGGTGCTGTGGGAGCTCCTGGAGCCCCTGGGCCCCCTGGCTCCCCTGGCCCCGCTGGTCCAACTGGCAAGCAAGGAGACAGAGGAGAAGCT
Seq A exon
GGTGCACAAGGCCCCATGGGACCCTCAGGACCAGCTGGAGCCCGGGGAATCCAG
Seq C2 exon
GGTCCTCAAGGCCCCAGAGGTGACAAAGGAGAGGCTGGAGAGCCTGGCGAGAGAGGCCTGAAGGGACACCGTGGCTTCACTGGTCTGCAGGGTCTGCCCGGCCCTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-'55-58,'55-57,56-58=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(16.1=38.9),PF0139113=Collagen=FE(41.2=100)
A:
PF0139113=Collagen=FE(20.0=100),PF0139113=Collagen=PU(13.4=61.1)
C2:
PF0139113=Collagen=PD(17.6=41.7),PF0139113=Collagen=FE(42.7=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGATCGTGGTGAGACTGGTG
R:
TCTCCTTTGTCACCTCTGGGG
Band lengths:
139-193
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains